烧伤所致代谢紊乱的临床诊断与治疗

烧伤后机体应激导致代谢紊乱，表现为严重高分解代谢，机体损耗和抵抗力下降，严重影响患者预后。临床上主要采用生理营养指标、实验室诊断指标和能量消耗测定3类检测指标对机体代谢状况进行诊断评估，继而通过药物治疗结合非药物治疗手段加以调理支持，促进烧伤修复。目前，仍有多种诊断治疗方法尚未普及或有待完善。     

多层螺旋CT在胰腺癌诊断中的应用

多层螺旋CT（MSCT）使扫描速度，薄层，覆盖范围达到了很好的统一，是胰腺癌最佳的单项检查手段。本文介绍了MSCT运用于胰腺的技术优势以及具体检查方法，重点叙述其在胰腺癌的诊断，术前可切除性的评估等方面的应用。     

Prenatal diagnosis of Werdnig Hoffmann disease in China

Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.
Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.     

Current concept and future research directions of mild cognitive impairment

Alzheimer's disease (AD) generally begins with mild memory problems which occur in an insidious manner and progresses to the development of multiple cognitive impairments. There is a ‘gray’ area between what is classified as ‘normal’ and what is classified as ‘dementia’, currently called mild cognitive impairment (MCI). In this article, a case of MCI is described, and the diagnosis, assessment, subclassification (pre‐Alzheimer type and white matter lesion type) and future therapeutic plans for MCI are reviewed.     

Cockett综合征的影像学诊断和介入治疗

目的探讨Cockett综合征影像学诊断和介入治疗方法。方法对20例Cockett综合征患者进行临床分析,其中13例行介入治疗术。结果下肢深静脉造影术能明确诊断Cockett综合征,13例患者经介入治疗后其临床症状体征均有不同程度的改善,临床疗效明显。结论介入治疗Cockett综合征,是一种简单、安全和有效的方法。     

载脂蛋白E基因多态性与颈动脉粥样硬化的相关性研究

目的:研究载脂蛋白E(ApoE)基因多态性与颈动脉粥样硬化的相关性。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对25例B超检测颈动脉内中膜厚度(IMT)增厚患者(增厚组)和25例同期健康体检者(对照组)的ApoE基因多态性进行分析。结果:IMT增厚组ε3等位基因频率较对照组降低(P<0.05),ε4等位基因频率较对照组升高(P<0.01)。IMT增厚组的ε3/ε4基因型频率显著要高于对照组。对以上两组再按ApoE基因型分别分为3组:ApoE2(ε2/2 ε2/3),ApoE3(ε3/3)和ApoE4(ε3/4 ε4/4)。结果显示颈动脉IMT在不同基因型间差异显著,ApoE4组显著增加,颈动脉多发斑块率在此组也显著增加。结论:ApoE基因多态性与颈动脉粥样硬化形成有相关性,ε4基因是颈动脉粥样硬化形成的危险因子。     

羊水细胞培养进行脊肌萎缩症的产前诊断

目的 应用错配聚合酶链反应-限制性片断长度多态性（PCR-RFLP）方法进行脊肌萎缩症（spinal muscular atrophy,SMA)的产前诊断。方法 基于运动神经元生存基因（SMN）的两个同源拷贝碱基的差异，通过羊水细胞培养，应用错配PCR-RFLP法对2例有SMA阳性家族史的胎儿进行产前基因诊断。结果 2例均无SMN基因外显子缺失。结论 SMN基因缺失检测技术是高效、快速的SMA产前诊断的方法。     

肾血管平滑肌脂肪瘤23例并文献复习

目的探讨肾血管平滑肌脂肪瘤的诊治方法.方法回顾性分析23例肾血管平滑肌脂肪瘤患者的临床资料并结合文献讨论其诊断与治疗问题.结果术前误诊为肾癌3例,23例均行不同手术治疗,术后病理证实为肾血管平滑肌脂肪瘤,术前选择性肾动脉栓塞或术中低温下阻断肾蒂可显著减少出血和不必要的肾切除.结论B超、CT是诊断本病的主要检查方法,彩超具有较好的良性疾病提示率,术中诊断不明者行多点取材冰冻切片具有重要意义,手术原则是尽可能保留肾单位.